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Neuromuscular Disorders : NMD
|
August 1, 2018
BAG3 myopathy is not always associated with cardiomyopathy
Annarita Ghosh Andersen, Freja Fornander, Henrik Daa Schrøder, et al.
Muscle & Nerve
|
January 18, 2018
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
Nanna Witting, Thomas Krag, Ulla Werlauff, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2026
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, et al.
Muscle & Nerve
|
November 27, 2009
Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations
Flemming Wibrand, Tina D Jeppesen, Anja L Frederiksen, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.
Bone Reports
|
July 14, 2021
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark
Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, et al.
Prenatal Diagnosis
|
March 31, 2016
Open source non-invasive prenatal testing platform and its performance in a public health laboratory
Peter Johansen, Stine R Richter, Marie Balslev-Harder, et al.
Investigative Ophthalmology & Visual Science
|
March 24, 2016
Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population
Thomas Rosenberg, Søren Nørby, Marianne Schwartz, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
Jan Rasmussen, Allan M Lund, Lotte Risom, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 14, 2012
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
Elsebet Ostergaard, Frodi Joensen, Karin Sundberg, et al.
Page
of 11
Search research articles
Search
Showing results (51-60 of 108) with videos related to
Sort By:
Page
of 11
Neuromuscular Disorders : NMD
|
August 1, 2018
BAG3 myopathy is not always associated with cardiomyopathy
Annarita Ghosh Andersen, Freja Fornander, Henrik Daa Schrøder, et al.
Muscle & Nerve
|
January 18, 2018
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
Nanna Witting, Thomas Krag, Ulla Werlauff, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2026
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, et al.
Muscle & Nerve
|
November 27, 2009
Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations
Flemming Wibrand, Tina D Jeppesen, Anja L Frederiksen, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.
Bone Reports
|
July 14, 2021
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark
Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, et al.
Prenatal Diagnosis
|
March 31, 2016
Open source non-invasive prenatal testing platform and its performance in a public health laboratory
Peter Johansen, Stine R Richter, Marie Balslev-Harder, et al.
Investigative Ophthalmology & Visual Science
|
March 24, 2016
Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population
Thomas Rosenberg, Søren Nørby, Marianne Schwartz, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
Jan Rasmussen, Allan M Lund, Lotte Risom, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 14, 2012
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
Elsebet Ostergaard, Frodi Joensen, Karin Sundberg, et al.
Page
of 11